Species Human Entrez 6473 | Human Mouse Ensembl ENSG00000185960 | |
Aliases SHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox External IDs HomoloGene: 55463 GeneCards: SHOX | ||
The short stature homeobox (SHOX) gene is a gene, located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
Contents
Pathology
The gene was first found during a search for the cause of short stature in women with Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.
Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as 47,XXX, 47,XYY, 47,XXY, 48,XXYY, etc.
Function
The SHOX gene is a homeobox gene, meaning that it helps regulate development. The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome and Y chromosome. Experiments have found similar genes in a variety of animals and insects.